R74W (p.Arg74Trp) variant of MUSK (O15146)
R74W (p.Arg74Trp) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9; not spe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs1370203787
- ClinGen CA374664194
- ClinVar RCV002025719
- TOPMed rs1370203787
- Uncertain significance
- Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9; not spe
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.48
- MetaLR 0.39
- MetaSVM -0.01
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Fetal akinesia deformation sequence 1; Congenital myasthenic syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)